Kaur Sargeet, Vashistt Jitendraa, Kumar Ajay, Parkash Jyoti, Changotra Harish
Department of Biotechnology and Bioinformatics, Jaypee University of Information Technology, Waknaghat, Solan, Himachal Pradesh, 173 234, India.
Translational Health Science and Technology Institute (THSTI), Faridabad, Haryana, 121001, India.
Mol Cell Biochem. 2025 May;480(5):2765-2769. doi: 10.1007/s11010-024-05177-9. Epub 2024 Dec 5.
Autophagy is a cytoprotective process that operates within a cell to maintain cellular homeostasis. An array of multiple proteins is involved to mediate this conserved cellular process. Among these, Beclin 1 protein encoded by BECN1 gene plays a crucial role during the initiation of autophagy. It acts as a molecular platform onto which multiple proteins interact to mediate autophagy initiation. The functioning of such proteins has reportedly been influenced by the molecular markers such as Single Nucleotide Polymorphisms (SNPs) present within the encoding gene. The SNPs within the autophagy gene have been known to influence the functioning of autophagy proteins which further is involved in various diseases. Studies have reported that the SNPs within the BECN1 are involved in various diseases. This report outlines the findings of all the existing research on the role of SNPs within BECN1.
自噬是一种在细胞内发挥作用以维持细胞稳态的细胞保护过程。一系列多种蛋白质参与介导这一保守的细胞过程。其中，由BECN1基因编码的Beclin 1蛋白在自噬起始过程中起关键作用。它作为一个分子平台，多种蛋白质在其上相互作用以介导自噬起始。据报道，此类蛋白质的功能受到编码基因内存在的单核苷酸多态性（SNP）等分子标记的影响。自噬基因内的SNP已知会影响自噬蛋白的功能，而自噬蛋白功能的改变又与多种疾病相关。研究报告称，BECN1内的SNP与多种疾病有关。本报告概述了关于BECN1内SNP作用的所有现有研究结果。
